Chest
Volume 116, Issue 2, August 1999, Pages 432-439
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Clinical Investigations
Miscellaneous
Pulmonary Arteriovenous Malformations: Screening Procedures and Pulmonary Angiography in Patients With Hereditary Hemorrhagic Telangiectasia

https://doi.org/10.1378/chest.116.2.432Get rights and content

Background

Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited disease with a high prevalence of pulmonary arteriovenous malformations (PAVMs). The first symptom of HHT may be stroke or fatal hemoptysis associated with the presence of PAVM.

Objective

To evaluate different screening methods applied for the identification of PAVMs.

Setting

Odense University Hospital.

Subjects

HHT patients with positive findings on contrast echocardiography (CE) who participated in a screening investigation and underwent pulmonary angiography (PA).

Methods

Different screening methods were evaluated against the results of PA. In a group of patients with positive findings on CE, we compared results of PA with the following: severity of dyspnea; results of pulse oximetry arterial oxygen saturation (Sao2) supine and upright; supine Pao2 in room air and while breathing 100% oxygen; size of arteriovenous shunt in supine position; chest radiograph; and intensity of contrast at CE.

Results

PA was performed in 25 HHT patients with positive findings on CE, 15 of whom had PAVM. Embolization therapy was recommended in 12 patients, and 3 patients had small PAVMs not accessible for therapy. In 10 patients, PAVM could not be demonstrated at PA. The sensitivity and specificity calculated for the screening procedures are as follows: 53% and 90%, respectively, for Sao2; 60% and 100%, respectively, for chest radiograph; 73% and 80%, respectively, for Pao2 in room air; 100% and 40%, respectively, for Pao2 breathing 100% oxygen; and 64% and 80%, respectively, for shunt measurement.

Conclusion

Initial screening with CE followed by measurement of Pao2 while breathing 100% oxygen seemed to be the best screening procedure for identification of patients with PAVM. Screening with chest radiograph and pulse oximetry was shown to be insufficient.

Section snippets

Materials and Methods

All HHT patients identified during a comprehensive epidemiologic survey in the county of Fyn, Denmark (population approximately 500,000)7 and their first-degree relatives (age > 18 years) were offered screening for PAVM with contrast echocardiography (CE). The HHT diagnosis was based on the following: (1) presence of multiple (> 15) telangiectatic lesions; and (2) either a family history of bleeding or recurrent episodes of bleeding. The criterion of heredity was considered to be met if the

Study Population

Twenty-five patients (14 men and 11 women) were included in the study and had PA performed (mean age, 44 years; range, 25 to 75 years). All fulfilled the diagnostic criteria for HHT and had positive findings on CE.

In 15 patients (8 men and 7 women), at least one PAVM was demonstrated at PA. Twelve of these patients had PAVMs with feeding vessels > 3 mm and were referred for embolotherapy, while 3 other patients had smaller PAVMs. All clinical data are shown in Table 1. Calculations of the

Discussion

Unexplained dyspnea, cyanosis, or reduced physical capacity may be the only clues to identify individuals with PAVM. Establishing the diagnosis of PAVM is important in both symptomatic and asymptomatic individuals because treatment will reduce the risk of paradoxical embolus and cerebral abscess, and improve the well-being of symptomatic individuals.11011 Treatment with embolotherapy is recommended if the diameter of the PAVM feeding vessel is > 3 mm.12 Various screening protocols from

Conclusion

Screening for PAVMs among HHT patients is highly recommended because a PAVM may cause potentially hazardous complications. A screening protocol should be able to safely identify all PAVMs, with the smallest possible number of patients proceeding to extensive investigations (PA in this study). We have evaluated different screening procedures and conclude that CE followed by measurement of Pao2 after breathing 100% oxygen fulfills these requirements. However, a high cut-off value (500 mm Hg) for

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